HPP
MCID: PYR011
MIFTS: 35

Pyropoikilocytosis (HPP) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pyropoikilocytosis

Aliases & Descriptions for Pyropoikilocytosis:

Name: Pyropoikilocytosis 54 13
Hereditary Pyropoikilocytosis 50 24 66 29 69
Hpp 24 66
Pyropoikilocytosis, Hereditary 52
Pyropoikilocytosis Hereditary 50

Characteristics:

HPO:

32
pyropoikilocytosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 266140
MedGen 40 C0520739

Summaries for Pyropoikilocytosis

OMIM : 54 Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia... (266140) more...

MalaCards based summary : Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hypophosphatasia and hereditary elliptocytosis, and has symptoms including hemolytic anemia, elliptocytosis and microspherocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (Spectrin Alpha, Erythrocytic 1), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include testes.

UniProtKB/Swiss-Prot : 66 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Wikipedia : 71 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

Related Diseases for Pyropoikilocytosis

Diseases related to Pyropoikilocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 hypophosphatasia 11.6
2 hereditary elliptocytosis 10.3
3 hereditary spherocytosis 9.9
4 spherocytosis, type 3 9.8 SPTA1 SPTB
5 hepatitis b 9.8 SPTA1 SPTB
6 pancreatitis 9.8
7 psoriasis 9.8
8 kernicterus 9.8 SPTA1 SPTB
9 malaria 9.8
10 hemolytic anemia 9.8
11 congenital hemolytic anemia 9.8
12 vagus nerve neoplasm 9.7 SPTA1 SPTB

Graphical network of the top 20 diseases related to Pyropoikilocytosis:



Diseases related to Pyropoikilocytosis

Symptoms & Phenotypes for Pyropoikilocytosis

Symptoms by clinical synopsis from OMIM:

266140

Clinical features from OMIM:

266140

Human phenotypes related to Pyropoikilocytosis:

32
id Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 elliptocytosis 32 HP:0004445
3 pyropoikilocytosis 32 HP:0004839
4 microspherocytosis 32 HP:0004835

Drugs & Therapeutics for Pyropoikilocytosis

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Novel Mutation of the Spectrin Gene Completed NCT00723567

Search NIH Clinical Center for Pyropoikilocytosis

Genetic Tests for Pyropoikilocytosis

Genetic tests related to Pyropoikilocytosis:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis 29 24 SPTA1

Anatomical Context for Pyropoikilocytosis

MalaCards organs/tissues related to Pyropoikilocytosis:

39
Testes

Publications for Pyropoikilocytosis

Articles related to Pyropoikilocytosis:

(show all 40)
id Title Authors Year
1
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 27667160 )
2016
2
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. ( 26377499 )
2015
3
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. ( 22882093 )
2012
4
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. ( 21054813 )
2011
5
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. ( 18454487 )
2008
6
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. ( 18815189 )
2008
7
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. ( 18492110 )
2008
8
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. ( 17279012 )
2007
9
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. ( 16150946 )
2005
10
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. ( 14687038 )
2004
11
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. ( 8755921 )
1996
12
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575 )
1996
13
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. ( 7795252 )
1995
14
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. ( 8418610 )
1993
15
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. ( 8364214 )
1993
16
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. ( 1541680 )
1992
17
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. ( 1845156 )
1991
18
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. ( 1878597 )
1991
19
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. ( 17590771 )
1991
20
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 2346784 )
1990
21
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. ( 2364170 )
1990
22
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. ( 2328319 )
1990
23
Malaria, hereditary elliptocytosis, and pyropoikilocytosis. ( 2564967 )
1989
24
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. ( 3167214 )
1988
25
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. ( 3692477 )
1987
26
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. ( 3620700 )
1987
27
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. ( 3604989 )
1987
28
Partial spectrin deficiency in hereditary pyropoikilocytosis. ( 3955236 )
1986
29
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. ( 3995028 )
1985
30
Identification of the hereditary pyropoikilocytosis carrier state. ( 6722357 )
1984
31
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. ( 6473460 )
1984
32
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. ( 6476002 )
1984
33
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. ( 6863544 )
1983
34
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. ( 6640107 )
1983
35
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. ( 7130392 )
1982
36
The pyropoikilocytosis-elliptocytosis syndrome in a black South African infant: clinical and hematological features. ( 7149173 )
1982
37
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. ( 7099765 )
1982
38
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. ( 7276161 )
1981
39
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. ( 7448405 )
1981
40
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. ( 447859 )
1979

Variations for Pyropoikilocytosis

UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis:

66
id Symbol AA change Variation ID SNP ID
1 SPTA1 p.Lys48Arg VAR_001335 rs121918644
2 SPTA1 p.Leu207Pro VAR_001339 rs121918643

ClinVar genetic disease variations for Pyropoikilocytosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SPTB NM_001024858.2(SPTB): c.6053C> G (p.Ala2018Gly) single nucleotide variant Pathogenic rs121918647 GRCh37 Chromosome 14, 65234547: 65234547
2 SPTA1 NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser) single nucleotide variant Pathogenic rs121918637 GRCh37 Chromosome 1, 158655027: 158655027
3 SPTA1 NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
4 SPTA1 NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs121918642 GRCh37 Chromosome 1, 158655080: 158655080
5 SPTA1 NM_003126.2(SPTA1): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs121918641 GRCh37 Chromosome 1, 158655079: 158655079
6 SPTA1 NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro) single nucleotide variant Pathogenic rs121918643 GRCh37 Chromosome 1, 158650431: 158650431
7 SPTA1 NM_003126.2(SPTA1): c.143A> G (p.Lys48Arg) single nucleotide variant Pathogenic rs121918644 GRCh37 Chromosome 1, 158655019: 158655019
8 SPTA1 SPTA1, EX5DEL, SVA RETROTRANSPOSON INS indel Pathogenic
9 SPTA1 NM_003126.2(SPTA1): c.2806-13T> G single nucleotide variant Pathogenic rs757147440 GRCh37 Chromosome 1, 158626459: 158626459
10 SPTA1 SPTA1, IVS22DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Pyropoikilocytosis

Search GEO for disease gene expression data for Pyropoikilocytosis.

Pathways for Pyropoikilocytosis

GO Terms for Pyropoikilocytosis

Cellular components related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.32 SPTA1 SPTB
2 cell cortex GO:0005938 9.26 SPTA1 SPTB
3 intrinsic component of the cytoplasmic side of the plasma membrane GO:0031235 9.16 SPTA1 SPTB
4 spectrin-associated cytoskeleton GO:0014731 8.96 SPTA1 SPTB
5 spectrin GO:0008091 8.62 SPTA1 SPTB

Biological processes related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.32 SPTA1 SPTB
2 MAPK cascade GO:0000165 9.26 SPTA1 SPTB
3 axon guidance GO:0007411 9.16 SPTA1 SPTB
4 ER to Golgi vesicle-mediated transport GO:0006888 8.96 SPTA1 SPTB
5 actin filament capping GO:0051693 8.62 SPTA1 SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 SPTA1 SPTB
2 actin filament binding GO:0051015 9.16 SPTA1 SPTB
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.96 SPTA1 SPTB
4 structural constituent of cytoskeleton GO:0005200 8.62 SPTA1 SPTB

Sources for Pyropoikilocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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